Syndromes/Associations Flashcards by Casey Gooden

Tumors assd with polycythemia

RCC, cerebellar hemangioblastoma, HCC, leiomyoma, SFT

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Tumors causing hypoglycemia

Insulinoma, Fibrosarcoma, SFT, HCC

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Tumors assd with acanthosis nigricans

Gastric, Lung, Uterine

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Cowden syndrome

FAP (hamartomas),
tricholemmomas,
dysplastic gangliocytoma (Lhermitte-Duclos),
breast CA, thyroid CA

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Gardner syndrome

FAP (adenomas),
Jaw osteomas,
desmoids,
desmoplastic fibromas/nasopharyngeal fibroma

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Syndrome assd with SCTAT

Peutz-Jeghers

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Peutz-Jeghers

small bowel hamartomas, 
sex-cord tumor with annular tubules, 
large cell calcifying sertoli tumor, 
adenoma malignum, 
breast, lung, ovary, panc

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Cronkite-Canada syndrome

FAP (harmartomas),
eletrolyte problems,
skin and nail changes,
severe

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Li-Fraumeni syndrome

p53 mutation; 
adrenal cortical carcinoma, 
rhabdomyosarcoma, 
glioblastoma,
osteosarcoma, 
breast, colon, stomach

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MEN 2B

(Wermer, RET) 
Medullary thyroid, 
Pheo, 
Gangliomas, 
Marfanoid

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MEN 2A

(Sipple, RET)
Hyperparathyroid,
Medullary thyroid,
Pheo

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MEN 1

(11q13)
Hyperparathyroid,
pituitary adenoma,
panc endocrine tumors

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LAD defect

1: CD11/CD18 integins,
2: sialylated oligosaccaride

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CGD

NADPH oxidase

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Chediak-Higashi

lysosomal defect

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Syndrome assd with sebaceous adenoma

Muir Torre, HNPCC

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Carney Triad

Paraganglioma,
gastric GIST,
pulmonary chondroma

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Incontinentia pigmenti

eosinophilic spongiotic dermatitis,

x-linked dominant

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Fabry dz

alpha-galactosidase A deficiency,

angiokeratomas

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Brain tumor with FAP

Medulloblastoma

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Genetics of FAP

APC gene,
inhibits WNT pathway,
B-catenin

Prader-Willi/Angelman genetics

del 15q

DiGeorge Genetics

del22q

Neiman Pick dz

Sphingomyelinase deficiency

Gaucher dz

Glucocerebrosidase def

MYH9 mutation syndromes

May-Hegglin, Sebastian synd, Fletchner synd, Epstein synd (all with giant plts)

Pearson Syndrome

Mitochondrial sideroblastic anemia, cytopenias, exocrine pancreatic deficiency

Chromosome breakage syndromes/mis-match repair

Ataxia-telangiectasia, Bloom synd, Xeroderma pigmentosum, Fanconi anemia

Beckwith-Wiedeman syndrome

``` Excessive growth, adrenal cortical CA, wilms, hepatoblastoma, rhabdomyosarcoma, pancreatoblastoma ```

Other tumors with hereditary retinoblastoma

``` Pineoblastoma, Osteosarcoma, chondrosarcoma, fibrosarcoma, ewing, leukemia/lymphoma ```

BRCA1

17q, medullary breast CA

BRCA2

13q, male breast CA

Carney Syndrome

``` Cutaneous and cardiac myxomas Lentigenes and blue nevi Endocrine overactivity (adrenal, thyroid, pituitary, testicular) Sclerosing sertoli cell tumor Pigmented psammomatous schwannoma ```

Syndromes assd with pheochromocytoma

``` MEN2A MEN2B Von Hippel-Lindau NF1 Sturge-Webber Hereditary paraganglioma syndromes ```

NF1

Neurofibromin 17q Neurofibromas Gliomas

NF2

``` Merlin 22q Schwannomas Meningiomas Ependymomas Bilateral vestibular schwannomas ```

Tuberous sclerosis genetics

TSC1 ch9 Hamartin | TSC2 ch 16 Tuberin

Brain tumor most assd with tuberous sclerosis

Subependymal giant cell astrocytoma

Turcot syndrome

FAP (adenomatous) Medulloblastoma Glioblastoma

Von Hippel-Lindau

``` 3p Hemangioblastoma RCC Panc islet cell tutors Pheochromocytoma Endolymphatic sac tumor ```

Niemann-Pick

Sphingomyelinase deficiency

Tay-Sachs

Hexosaminidos A deficiency

Krabbe dz

Galactocerebrosidase def

Canavan dz

Aspartoacylase def | Increased urine NAA

Metachromatic leukodystrophy

Arylsulfatase A def

X-linked adrenoleukodystrophy

ABCD1 gene Increased plasma very long chain fatty acids Children CNS white matter and adrenal

Lhermitte-Duclos dz

Dysplastic cerebellar gangliocytoma | Assd with Cowden syndrome

Gorlin syndrome

``` Medulloblastoma BCCs Odontogenic keratocysts Ovarian tumors (PTCH gene) ```

Letterer-Siwe dz

Systemic, rapidly fatal langerhans cell histiocytosis

Hand-Schuller-Christian dz

Langerhans cell histiocytosis with multifocal bone lesions

Hamartomatous polyposis syndromes

Peutz-Jegher, Cowden, Cronkhite-Canada, Familial juvenile polyposis

Adenomatous polyposis syndromes

FAP, Gardner, Turcot